Associated Papers
Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.
Roy S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Pharmacological Chaperones for β-Galactosidase Related to GM1 -Gangliosidosis and Morquio B: Recent Advances.
Stütz AE et al.
Chemical Record (new York, N.y.), 2021
GM1 Gangliosidosis: Mechanisms and Management.
Rha AK et al.
The Application of Clinical Genetics, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.
Losada Díaz JC et al.
International Journal of Molecular Sciences, 2019
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L et al.
The Journal of Pediatrics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L et al.
Clinical Genetics, 2018
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Front S et al.
European Journal of Medicinal Chemistry, 2017
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.
Sánchez-Fernández EM et al.
Chemical Communications (cambridge, England), 2016
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
Takai T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2013
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.
Higaki K et al.
Human Mutation, 2011
Chemical chaperone therapy: luciferase assay for screening of β-galactosidase mutations.
Li L et al.
Molecular Genetics and Metabolism, 2010
Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities.
Suzuki Y et al.
Perspectives in Medicinal Chemistry, 2009
Chemical chaperone therapy for GM1-gangliosidosis.
Suzuki Y
Cellular and Molecular Life Sciences : Cmls, 2008
Fibroblast screening for chaperone therapy in beta-galactosidosis.
Iwasaki H et al.
Brain & Development, 2006
Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.
Muthane U et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse.
Tominaga L et al.
Brain & Development, 2001
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Morrone A et al.
Human Mutation, 2000
beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.
Kaye EM et al.
Journal of Child Neurology, 1997
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.
Chakraborty S et al.
American Journal of Human Genetics, 1994
Beta-galactosidase deficiency: an approach to chaperone therapy.
Suzuki Y
Journal of Inherited Metabolic Disease, 0